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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Invs and nephronophthisis 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with INVS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to nephronophthisis 2  (DOID:0111113)
  • 9 papers in RGD have been used to annotate Invs


    • An association has been curated linking Invs and nephronophthisis 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with INVS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to nephronophthisis 2  (DOID:0111113)
  • 9 papers in RGD have been used to annotate Invs
  • Curation Notes: ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 2, infantile
  • Original References(s): PMID:12872123 PMID:15852005 PMID:16199547 PMID:16522655 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19177160 PMID:20798123 PMID:21866095 PMID:22773737 PMID:23559409 PMID:23713026 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26489027 PMID:2702088 PMID:28492532 PMID:30029678 PMID:31131822 PMID:31706999 PMID:32173348 PMID:32335886 PMID:33323469 PMID:33532864 PMID:34031707 PMID:34295353 PMID:34298581 PMID:9536098


    • An association has been curated linking Invs and nephronophthisis 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Otto EA, etal., Nat Genet. 2003 Aug;34(4):413-20. doi: 10.1038/ng1217.
  • The annotation has been inferred from sequence orthology with INVS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Otto EA, etal., Nat Genet. 2003 Aug;34(4):413-20. doi: 10.1038/ng1217.
  • 3 RGD objects have been annotated to nephronophthisis 2  (DOID:0111113)
  • 9 papers in RGD have been used to annotate Invs
  • Curation Notes: DNA:missense mutations, non-sense mutations, frameshift mutations:


    • An association has been curated linking Invs and nephronophthisis 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with INVS (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to nephronophthisis 2  (DOID:0111113)
  • 9 papers in RGD have been used to annotate Invs
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Invs and nephronophthisis 2 in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Invs (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to nephronophthisis 2  (DOID:0111113)
  • 9 papers in RGD have been used to annotate Invs
  • Curation Notes: OMIM:602088


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